Tg(Myh6-MYL2*K104E)2Dsc
Transgene Detail

Summary

• Symbol: Tg(Myh6-MYL2*K104E)2Dsc
• Name: transgene insertion, Danuta Szczesna-Cordary
• MGI ID: MGI:6193977
• Synonyms: Tg-MUT
• Transgene: Tg(Myh6-MYL2*K104E)2Dsc Location: unknown
• Alliance: Tg(Myh6-MYL2*K104E)2Dsc page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-MYL2*K104E)2Dsc expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MYL2 (4633)

  Myl2	(MGI:97272)

  contains K104E mutation seen in patients with hypertrophic cardiomyopathy

• Mutation details: The mouse alpha-MHC promotor drives the expression of the human ventricular myosin regulatory light chain 2 cDNA containing a lysine to glutamate change at amino acid 104 (K104E). Three lines (2, 3 and 7) were generated. Line 2 is entered as a representative line. (J:263776)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available

References

• Original: J:263776 Huang W, et al., Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice. J Mol Cell Cardiol. 2014 Sep;74:318-29
• All: 2 reference(s)